| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Deficiency of 2-methylbutyryl-CoA dehydrogenase | |
| | | Duplication (frameshift variant) | Deficiency of 2-methylbutyryl-CoA dehydrogenase | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Deficiency of 2-methylbutyryl-CoA dehydrogenase | |
| | | Single nucleotide variant (missense variant) | Deficiency of 2-methylbutyryl-CoA dehydrogenase | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Deficiency of 2-methylbutyryl-CoA dehydrogenase | |
Click to view in NCBI Gene